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Caring for patients with the genetic disorder neurofibromatosis type 2 (NF2) is often a balancing act between observation, medical treatments and surgical interventions. But recent advancements can assist providers in their decision-making and maximize patient quality of life, according to a new Cleveland Clinic podcast on NF2 management.
“The natural history of NF2 is likely to change very soon as science is moving forward,” says podcast guest Neha Patel, MD, a Cleveland Clinic pediatric hematologist-oncologist with expertise in neurofibromatosis. “We have developed more in vitro and mice models, and we are learning how molecular targeted therapies are improving patients’ hearing and decreasing the size of their tumors. I believe the outcome of these patients is going to change over time.”
Dr. Patel shares insight on improving the journey for patients with NF2 in the latest episode of Cleveland Clinic’s Neuro Pathways podcast. She discusses:
Click the podcast player above to listen to the episode now, or read on for a short edited excerpt. Check out more Neuro Pathways episodes at clevelandclinic.org/neuropodcast or wherever you get your podcasts.
Dr. Patel: We know that patients with NF2 mutation have mutation in the merlin protein, which is a tumor suppressor protein. Mutation in the merlin protein leads to upregulation of two parallel downstream pathways, which are the PI3K/AKT/mTOR pathway and the Raf/MEK/ERK pathway.
Many molecular targeted agents inhibiting these pathways are being explored in order to preserve or improve symptoms and to prevent or decrease tumor formation. One of the initial published trials used bevacizumab. Many patients not only experienced improvement in hearing — i.e., functional response — but some patients also had shrinkage of their vestibular schwannomas. Therefore, bevacizumab has become the first-line treatment that we offer to our patients with NF2-related vestibular schwannomas who are experiencing either decline in their hearing or tumor growth.
However, since the bevacizumab trial, subsequent clinical trials have explored many other molecular targeted agents. Some have failed, despite being designed to hit appropriate molecular targets, while others are showing initial response. There are two agents that are currently in clinical trials, brigatinib and crizotinib. A few prior clinical trials have failed; these included drugs such as lapatinib and sorafenib. Thus, it is very important to enroll these patients in clinical trials and study the response systematically.